Novel homozygous variants in the SERPING1 gene in two Turkish families with hereditary angioedema of recessive inheritance-Reference-Cited by-同舟云学术

Novel homozygous variants in the SERPING1 gene in two Turkish families with hereditary angioedema of recessive inheritance

Published:2020-07-12 Issue:8 Volume:98 Page:693-699
ISSN:0818-9641
Container-title:Immunology & Cell Biology
language:en
Short-container-title:Immunol Cell Biol

Author:

Mete Gökmen Nihal¹^ORCID,Rodríguez‐Alcalde César²,Gülbahar Okan¹^ORCID,Lopez‐Trascasa Margarita³^ORCID,Onay Hüseyin⁴^ORCID,López‐Lera Alberto²⁵^ORCID

Affiliation:

1. Department of Internal Medicine Division of Allergy and Immunology Ege University Faculty of Medicine Izmir Turkey

2. Hospital La Paz Institute for Health Research (IdiPAZ) Madrid Spain

3. Departamento de Medicina Universidad Autónoma de MadridHospital La Paz Institute for Health Research (IdiPAZ) Madrid Spain

4. Department of Medical Genetics Ege University Faculty of Medicine Izmir Turkey

5. Centre for Biomedical Network Research on Rare Diseases (CIBERER) Madrid Spain

Publisher

Wiley

Subject

Cell Biology,Immunology,Immunology and Allergy

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/imcb.12362

Reference10 articles.

1. Study Group on Bradykinin‐Induced Angioedema; Grupo Español de Estudio del Angioedema mediado por Bradicinina. Consensus statement on the diagnosis, management, and treatment of angioedema mediated by bradykinin. Part I. Classification, epidemiology, pathophysiology, genetics, clinical symptoms, and diagnosis;Caballero T;J Investig Allergol Clin Immunol,2011

2. Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema

3. SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes

4. First case of homozygous C1 inhibitor deficiency

5. A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation

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1. Recessive SERPING1 Variant Leads to Kinin–Kallikrein System Control Failure in a Consanguineous Brazilian Family with Hereditary Angioedema;Journal of Clinical Medicine;2023-11-24

2. Restriction of C1-inhibitor activity in hereditary angioedema by dominant-negative effects of disease-associated SERPING1 gene variants;Journal of Allergy and Clinical Immunology;2023-11

3. Hereditary Angioedema: The Clinical Picture of Excessive Contact Activation;Seminars in Thrombosis and Hemostasis;2022-11-23

4. Inheritance Pattern of Hereditary Angioedema Indicates Mutation-Dependent Selective Effects During Early Embryonic Development;The Journal of Allergy and Clinical Immunology: In Practice;2021-12

5. Leveraging Genetics for Hereditary Angioedema: A Road Map to Precision Medicine;Clinical Reviews in Allergy & Immunology;2021-01-28